Gene Gene information from NCBI Gene database.
Entrez ID 10512
Gene name Semaphorin 3C
Gene symbol SEMA3C
Synonyms (NCBI Gene)
SEMAESemE
Chromosome 7
Chromosome location 7q21.11
Summary This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimeriz
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs7779029 T>C Drug-response Intron variant
miRNA miRNA information provided by mirtarbase database.
768
miRTarBase ID miRNA Experiments Reference
MIRT016050 hsa-miR-374b-5p Sequencing 20371350
MIRT019941 hsa-miR-375 Microarray 20215506
MIRT027705 hsa-miR-98-5p Microarray 19088304
MIRT1334638 hsa-miR-1178 CLIP-seq
MIRT1334639 hsa-miR-1202 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0001755 Process Neural crest cell migration IBA
GO:0001755 Process Neural crest cell migration IEA
GO:0001756 Process Somitogenesis IEA
GO:0001974 Process Blood vessel remodeling IEA
GO:0003148 Process Outflow tract septum morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602645 10725 ENSG00000075223
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99985
Protein name Semaphorin-3C (Semaphorin-E) (Sema E)
Protein function Binds to plexin family members and plays an important role in the regulation of developmental processes. Required for normal cardiovascular development during embryogenesis. Functions as attractant for growing axons, and thereby plays an importa
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 56 493 Sema domain Family
PF07679 I-set 579 661 Immunoglobulin I-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed intensely in the heart, skeletal muscle, colon, small intestine, ovary, testis, and prostate. Faint expression ubiquitously among other organs, including brain.
Sequence
Sequence length 751
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Axon guidance  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
101
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs1527482 RCV005924595
Clear cell carcinoma of kidney Benign rs1527482 RCV005924596
Hepatocellular carcinoma Benign rs1527482 RCV005924592
High myopia Uncertain significance rs906961857 RCV000785713
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35437508
Atrophy Associate 26993346
Autism Spectrum Disorder Associate 23879678
Barrett Esophagus Associate 35654816
Breast Neoplasms Associate 19915008, 37443749
Burkitt Lymphoma Associate 29033373
Carcinogenesis Associate 12598331, 26032848
Carcinoma Pancreatic Ductal Associate 31926587, 34691034
COVID 19 Associate 38203569
Dyslexia Associate 34076780